Del (7q) Deletion LPH025

Abnormalities of chromosome 7 are very common in adult and childhood AML and MDS. In children it is often associated with juvenile Chronic Myeloid Leukaemia (jCML). There is also a predominance in leukaemias associated with constitutional genetic disorders including neurofibromatosis 1 (NF1), Fanconi Anaemia and possibly Down syndrome, which produces a distinct clinical picture known as Monosomy 7 syndrome. Studies of myeloid disorders involving -7/del(7q) have found that signaling pathways using RAS proteins are affected. There are two commonly deleted regions (CDRs), one at 7q22 and the second at 7q31-34.2.